View clinical trials related to Rickets.
Filter by:The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to continue dosing for the potential treatment of their condition.
The goal of this study is to find out if the use of ultrasound pictures of bones can spot changes in the growth areas of children with rickets, a condition that affects how bones harden. Researchers want to see if these ultrasound pictures can help tell the difference between children who have rickets and those who don't.
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene. XLH is associated with a wide range of clinical manifestations in children and adults, all of which can impact on their health-related quality of life. Conventional treatment (or standard of care, SOC) consists of phosphate supplementation and active vitamin D analogues. The management of patients with XLH has been modified in France since 2018 with the authorisation of the anti-FGF23 antibody, burosumab, in paediatrics (and in 2020 in adults). A propensity for overweight/obesity has recently been demonstrated in these patients. Could extra-skeletal effects of FGF23, in particular on the inflammatory profile of patients, be responsible for these manifestations? Obesity has been associated with inflammation in other populations. In terms of inflammation, there is a close link between FGF23 and inflammation: inflammatory cytokines increase the production of FGF23, which in turn increases inflammation by stimulating the production of inflammatory cytokines. Osteoclastogenesis and inflammation are linked and inflammation has been shown to increase bone resorption. In a recent study, the investigators showed that osteoclastogenesis was significantly impaired in cells obtained from XLH patients compared with control patients, and that osteoclasts obtained from XLH children showed higher gene expression of inflammatory markers than controls. Interestingly, no difference was observed in circulating monocytic cells between the two patient subgroups, conservative treatment and burosumab, whereas the inflammatory profile at the end of osteoclastic differentiation was reduced in cells derived from patients receiving burosumab. The aim of this study is therefore to investigate the inflammatory profile of circulating monocytic cells on the day of burosumab injection (D0) and seven days later (peak effect of anti-FGF23).
The objective of this post-marketing surveillance (PMS) study is to assess the safety and effectiveness of CRYSVITA injection 10, 20, and 30mg, equivalent to in routine clinical settings
Patients with hypovitaminosis D are randomized into three arms of treatment: Group A: Calcifediol 0,266mg each month Group B: Cholecalciferol 25000UI each 15 days Group C: Calcifediol 4 drops per day. Serum levels of vitamin D are dosed after one month of treatment
Since obesity is related to systemic chronic inflammatory status and hypovitaminosis D, the study aimed to assess the incidence of hypovitaminosis D in obese patients and the correlations between vitamin D levels, inflammation indices, and bioimpedance measures. A retrospective study was conducted on a cohort of obese patients. The inflammation-based prognostic scores, diagnosis of liver fibrosis, systemic inflammatory indices, and bioimpedance measures were analyzed. The linear relationship between vitamin D levels and continuous variables was assessed through the Spearman correlation coefficient, and to determine significant predictors of vitamin D levels a stepwise multiple linear regression was used.
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: - Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. - Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. - Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.
The primary purpose of Study INZ701-106 (The ENERGY 3 Study) is to assess the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.
The goal of this observational study is to verify the role of adipose tissue in determining the vitamin D serum level after monthly oral administration in subjects with vitamin D deficiency. The main questions it aims to answer are: - Adipose tissue represents a storage environment for vitamin D or it's an environment where vitamin D is sequestered and no longer released - On the other hands, it's possible to verify whether the adipose tissue carries out a bi-modal activity towards vitamin D - If adipose tissue exerts a bi-modal effect, it is possible to identify a specific threshold between the two effects Participants will undergo anthropometric measurements (height, weight, waist/hip ratio waist circumference) at baseline and after 6 months of intake of cholecalciferol 50,000 IU/month
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.